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1.
Cureus ; 16(4): e59075, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38800243

RESUMO

Crigler-Najjar syndrome (CNS) is a genetic syndrome that results in increased levels of unconjugated bilirubin due to less or completely nonfunctional enzyme, uridine diphosphoglucoronyltransferase (UDPGT) in hepatocytes. When bilirubin metabolism is compromised, hyperbilirubinemia is caused, which results in increased levels of unconjugated and conjugated bilirubin in the bloodstream. CNS is an autosomal recessive disorder, usually noticeable as people get older. This disorder is divided into two types: CNS type I and CNS type II, which are caused by homozygous or compound heterozygous mutations in the UDP glucuronosyltransferase family 1 member A1 (UGT1A1) gene. The disorder affects all races and genders equally, with a prevalence of one per million births. CNS type I is more severe and has almost undetectable UDPGT expression activity, and affected individuals die before one year of age. Consanguineous marriages are a major risk factor as CNS is inherited in an autosomal recessive manner. Being rare, maternal CNS type II is yet to be completely understood in terms of its impact on the mother, her pregnancy, and the infant. We aim to present a case of a pregnant female with CNS type II and its clinical course. She was monitored closely during her pregnancy. The treatment protocol was followed as per previously reported cases and was managed on low, non-teratogenic doses of phenobarbitone. A successful outcome with the birth of a healthy infant having normal neurological development till six months follow-up was observed.

2.
Cureus ; 16(2): e53958, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38468985

RESUMO

This comprehensive review explores the transformative potential of radical trachelectomy as a minimally invasive approach to early-stage cervical cancer treatment. Cervical cancer, a significant global health concern, necessitates innovative strategies for effective intervention, particularly in its early stages. The review begins by providing a background on cervical cancer, emphasizing the pressing need for early-stage treatment options. The focal point is the meticulous examination of radical trachelectomy, a surgical technique that addresses the oncological aspects of treatment and preserves fertility. The conclusion encapsulates vital findings, highlighting this approach's dual benefits and challenges. Furthermore, the implications for clinical practice underscore the paradigm shift that radical trachelectomy brings, urging healthcare professionals to consider its integration into personalized treatment plans. The review concludes with a compelling call to action for further research, emphasizing the importance of refining surgical techniques and fostering interdisciplinary collaboration to ensure the seamless implementation of radical trachelectomy. Overall, this review sets the stage for a transformative shift in the approach to early-stage cervical cancer, presenting radical trachelectomy as a promising frontier in the quest for effective and patient-centered interventions.

3.
Cureus ; 16(2): e54839, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38533137

RESUMO

Uterine torsion is defined as torsion of the uterus along its longitudinal axis greater than 45 degrees. It is observed in all age groups of the reproductive period, in all parity groups, and at all stages of pregnancy. Torsion from 60 degrees to 720 degrees has been described. It is not possible to clarify why it occurs, but numerous abnormalities have appeared with uterine torsion. It is a rare complication that can result in placental abruption and intrauterine foetal death. Pregnancy, giant fibroids, and ovarian cysts are among the most common causes. Vague clinical attributes make diagnosis challenging pre-operatively and can be missed on routine ultrasound. Being a rare life-threatening condition, it necessitates a high level of concern for diagnosis and prompt intervention to optimise results. This review will help the healthcare worker to understand the various presentation of uterine torsion and their management by appropriately and timely diagnosing it.

4.
Cureus ; 15(10): e46832, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37954760

RESUMO

Placental abruption, a rare but life-threatening obstetric emergency, presents substantial risks to maternal and fetal well-being. This case report documents the clinical journey of a 35-year-old woman with multiple risk factors who presented at 30 weeks gestation with symptoms suggestive of placental abruption, including colicky lower abdominal pain and vaginal bleeding. Notably, her late initiation of prenatal care and a history of pregnancy-induced hypertension added complexity to the clinical picture. The case revealed a Couvelaire uterus, an uncommon and challenging complication of placental abruption, further emphasizing the need for early recognition and swift intervention. A multidisciplinary approach played a pivotal role in managing this high-risk obstetric case. Imaging and laboratory tests facilitated diagnosis and assessment, guiding surgical intervention and post-operative care. Despite the severity of the condition, the patient experienced a positive outcome for herself and her fetus, highlighting the critical importance of timely and comprehensive medical care. This case report contributes to medical knowledge by shedding light on the rare Couvelaire uterus. It underscores the significance of early diagnosis, coordinated healthcare teams, and patient education in mitigating risks associated with placental abruption. Ultimately, it reinforces the vital role of healthcare providers in safeguarding the lives of expectant mothers and their infants in obstetric emergencies.

5.
Neuropeptides ; 102: 102369, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37611472

RESUMO

Alzheimer's disease (AD) has remained elusive in revealing its pathophysiology and mechanism of development. In this review paper, we attempt to highlight several theories that abound about the exact pathway of AD development. The number of cases worldwide has prompted a constant flow of research to detect high-risk patients, slow the progression of the disease and discover improved methods of treatment that may prove effective. We shall focus on the two main classes of drugs that are currently in use; and emerging ones with novel mechanisms that are under development. As of late there has also been increased attention towards factors that were previously thought to be unrelated to AD, such as the gut microbiome, lifestyle habits, and diet. Studies have now shown that all these factors make an impact on AD progression, thus bringing to our attention more areas that could hold the key to combating this disease. This paper covers all the aforementioned factors concisely. We also briefly explore the relationship between mental health and AD, both before and after the diagnosis of the disease.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/metabolismo , Estilo de Vida
6.
Indian J Public Health ; 63(3): 215-219, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31552851

RESUMO

BACKGROUND: With the rapid rolling out of the information highway, an increasing number of patients are accessing the Internet for medical information. Against this background, the present study was undertaken. OBJECTIVES: To ascertain patients' use and opinion on impact of Internet on doctor-patient relationship. METHODS: A cross-sectional study was done. A total of 709 patients was interviewed, 307 from urban and 402 from rural field practice areas. Institutional ethical approval was obtained before data collection. Categorical data were summarized by percentages with 95% confidence intervals (CIs). Quantitative data were summarized by mean and standard deviation. Associations were explored using odds ratio (OR) with 95% CI for categorical data and two sample t-test for quantitative data. RESULTS: Internet for medical information was used by 50.35% of the patients (95% CI = 46.68, 54.02). More urban patients, i.e., 79.48% used Internet compared to rural patients, i.e., 28.11%. This difference was significant, OR = 9.9 (95% CI = 6.9, 14.0; P < 0.0001). Users of Internet had about 4 years more schooling than nonusers. This was significant, P < 0.0001. More users believed that this trend will improve the doctor-patient relations (51.26%), compared to nonusers (17.05%). This difference was significant, OR = 5.11, 95% CI = 3.61, 7.22, P < 0.0001. CONCLUSIONS: A large proportion of patients used Internet to get medical information, significantly more urban patients compared to rural patients. The implication of this is that doctors in times to come will be dealing with patients empowered by online health information.


Assuntos
Informação de Saúde ao Consumidor/métodos , Internet , Relações Médico-Paciente , Adulto , Estudos Transversais , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Características de Residência
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